X-linked hypophosphataemia.

IF 1.2 Q2 MEDICINE, GENERAL & INTERNAL

Tidsskrift for Den Norske Laegeforening Pub Date : 2025-02-26 Print Date: 2025-03-04 DOI:10.4045/tidsskr.24.0476

Qidi Wang, Cennet Akdeniz, Ansgar Heck, Mai Britt Bjørk, Ole Rasmus Theisen, Heidi Beate Eggesbø, Tormod B Krüger, Janne E Reseland, Hege Kampen Pihlstrøm, Bjørn Olav Åsvold, Guri Grimnes, Marianne Aardal Grytaas, Silje Hjort Rafaelsen, Per M Thorsby, Lena Lande Wekre, Trine E Finnes

引用次数: 0

Abstract

X-linked hypophosphataemia is a rare genetic disorder that causes renal phosphate wasting, impaired mineralisation of teeth and bones, skeletal deformities and limited mobility, all of which significantly impact on health and quality of life. This clinical review examines the recommendations for diagnosing, treating and monitoring adults with the condition.

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